SMA Spinal muscular atrophy : treatment

SMA spinal muscular atrophy is a genetic disorder related to muscular wasting that affects roughly 1 in 6,000 births. it can be delay development which can make tasks like chewing, swallowing difficult which can in some cases be dangerous. it is not curable but there are some types of treatment.

there are four types of SMA which diffrentiat by severity, prognosis and symptoms. spinal muscular atrophy’s treatment depends on it’s type and severity of symptoms. it includes muscle weakness, fatigueness and respiratory issues among other symptoms

so what is spinal muscular atrophy ?

it is a group of genetic disorders in which nerve cells which supplys muscles are affected. these disorders kills motor neurons. when signal is disrupted so action potential is weak and the muscle is unable to function like normal.

the large muscle closer to body are more prone to get affected than small muscle further away in the extremities. in some cases fascial and respiratory muscles are also get’s affected which causes swallowing, breathing weak

it can affect both males and females.

ohk so what causes SMA ?

it is an autosomal recessive conditin which is passed down through a mutated gene from both the parents. sometimes there are no family history is present.

majorly it is caused by deletion or mutation of a SMN gene or say survival motor neuron gene, located on chromosome 5. there two types of SMNs : SMN1 and SMN2 the deletion of the SMN 1 causes the disorder and severity is determined by SMN2’s copies which are present

how can we diagnos SMA ?

it can be diagnosed via physical examinatin, medical history and some test. but sometimes in childrens it is suspected as lack of voluntry control

there are some testing which can help us to diagnos SMA which includes :

1) clinical examinatin and labs to examine creatine kinase amount

• elevated amount can indicate muscle damage

2) muscle biopsy

3) EMG

• specific electrical activity can be helpful to indicate SMA

4) genetic testing

signs and symptoms of SMA

• muscle weakness
• fatigueness
• loss of reflexes
• scoliosis
• respiratory issues
• swallowing and chewing difficulty

physiotherapy for SMA

it will depend on type of SMA and the symptoms which are present. SMA1 physiotherapy will be more focused on respiratory techniques to assist with clearing the airways and managing secretins as well as preventing contractures to allow for hygiene and dressing.

while for SMA 2 and 3 physiotherapy will be more focused on streanthening, streatchin and functinal goals.

• assessment of ROM and MMT
• orthotics to improve gait and biomechanical allignments
• streatching and mobilization
• gait and postural training
• functional training
• respiratory physiotherapy like airway clearance, suctioning, oscillation

other treatment for SMAs :

• gene therapy
• occupational therapy
• stem cell therapy